The Medico-Social Peculiarities of Health Condition of Primary School Pupils

The aim of the research is to assess the main medico-social peculiarities of health condition of primary school pupils in Lviv and Lviv region and its dynamics within the last years. Materials and methods of research. To conduct the analysis we used the data, which are the result of the health condition monitoring of primary school pupils in 2002 (1430 primary school pupils in Lviv city), and in 2012 (4041 primary school pupils in Lviv city and 1650 primary school pupils, citizens of 4 regions of Lviv oblast). Additionally we have taken into account the data, collected within the dynamic 2-years observation of primary school pupils of four schools in Lviv city (427 children). The frequency and main risk factors of deterioration of health condition emerged in children, school disadaptation syndrome. Results and discussion. It is defined that among the factors that contribute to children’s health deterioration the important role plays pupil workload, social risk factors, behavioral characteristics of child life that evokes the rapid development of dіsadaptation syndrome, deterioration of health condition of a child. Conclusions. The complex approach to the health condition assessment of a child is suggested, as well as new methods of clinical supervision that enables the improvement of health condition of pupils. The screening questionnaire of pupils resulted in defining of risk groups for the further profound research

Pneumonia in Children: Pharmacogenetic Aspect in the Appearence of the Severe Forms and Complications of the Disease (Literature Review and Clinical Case Presentation)

Introduction. Respiratory system diseases were and continue to be a topical problem of the medicine overall and pediatrics in particular. Pneumonia is the most serious disease that kills children under 5 years old globally, taking about 1 million lives every year. Purpose of the study. To analyze the domestic and foreign literary sources of information dedicated to the role of pharmacogenetics in appearances of the severe forms and complications of pneumonia in children and also to describe a clinical case. Materials and research methods. Content­analysis, methods of systemic and comparative analysis, biblio semantic method of the actual scientific researches study about the role of pharmacogenetics in appearence of severe forms and pneumonia complications in children, analysis of a case of the disease of a particular patient who was under our observation. Source searching was done with the scientometric databases of medical information: PubMed­NC­BI, Medline, CochraneLibrary, EMBASE, ResearchGate using keywords: pneumonia, children, pharmacogenetics, xenobiotic biotransformation genes. In all, 41 sources in English, Russian and Ukrainian languages were analyzed. Results of the analysis. Pneumonia is an acute infectious inflammatory disease of the lung parenchyma, characterized by the infiltrative changes in lung tissue and respiratory failure. A lot of microorganisms can be a reason for pneumonia occurrence. Among the most common bacteria pathogens are: Streptococcus pneumoniae, Haemophilus influenzae type B, and among viruses it’s Human respiratory syncytial virus. Despite the timely diagnosis and an appropriate drug therapy the number of severe forms and complications of pneumonia is not being reduced. A lot of scientific studies of this topic during the last years are aimed at genetics exploration. Particularly, the area of pharmacogenetics is interesting and perspective part of it. About 50 % of adverse responses to drugs are caused by the genetic factors. Study of pharmacogenetic impact can serve as a basis for a creation of the individualized approach to the choice of treatment tactics and to the dosage regime. Genetic polymorphisms of xenobiotic metabolism determines the division of people into groups that differ in their ability to metabolize drugs from insufficient to ultrafast metabolisers. Genetic polymorphisms of xenobiotic metabolism can be the reason for occurrence of severe forms and complications of various diseases, including pneumonia in children. These genes include: glutathione transferases (GSTM), O­ and N­acetyltransferases (OAT, NAT1, NAT2) and others. Among the proteins which affect the speed of excretion of the pharmacological agents the special place belongs to P­glycoprotein, encoded by the gene MDR1. The research results of different authors showed that genetic polymorphism of MDR1 can be an important factor that determines the predisposition to various diseases and resistance to treatment. Conclusions. The researches of genes involved in the distribution, biotransformation and excretion of toxic products of decay of drugs, is a promising and important component of the pathogenesis and, accordingly, the diagnosis and treatment of pneumonia in children

Основні положення настанов по веденню хворих з алергією до коров'ячого молока. Частина ІV. Лікування та прогноз алергії до коров'ячого молока (продовження)

The article presents the 13th and 14th sections of the World Allergy Organization guidelines DRACMA (Diagnosis and Rationale for Action against Cow's Milk Allergy), which was the prototype for the creation of national guidelines for the management of patients with the cow milk allergy. Guidelines developed by the panel on the initiative of Ukrainian Allergy Organization, Ukrainian Organization of children gastroenterologists and nutritionists, Ukrainian Organization of immunologists, allergists and imunoreabilitologists and supported by the Ministry of Health of Ukraine. Keywords: allergy, cow's milk, diagnostics, food challenge.В статье представлены разделы 13 и 14 руководства Всемирной организации аллергологов DRACMA (Diagnosis and Rationale for Action against Cow's Milk Allergy), ставшего прототипом для создания отечественного Руководства по ведению больных с аллергией к коровьему молоку. В этих разделах рассматриваются вопросы возможности исключения белков коровьего молока из диеты без заменителей молока (раздел 13) и рекомендации относительно выбора заменяющей смеси (раздел 14). Рекомендации разработаны рабочей группой по инициативе Ассоциации аллергологов, Ассоциации детских гастроэнтерологов и нутрициологов, Ассоциации иммунологов, аллергологов и иммунореабилитологов Украины и при поддержке МЗ Украины. Ключевые слова: аллергия, коровье молоко, лечение, прогноз.У статі наведено розділи 13 та 14 керівництва Всесвітньої організації алергологів DRACMA (Diagnosis and Rationale for Action against Cow's Milk Allergy), що стало прототипом для створення вітчизняних Настанов по веденню хворих з алергією до коров'ячого молока (АКМ). У цих розділах розглядаються питання можливості виключення білків коров'ячого молока з дієти без замінників молока (розділ 13) та рекомендації щодо вибору замінної суміші (розділ 14). Настанови розроблені робочою групою за ініціативи Асоціації алергологів, Асоціації дитячих гастроентерологів та нутриціологів, Асоціації імунологів, алергологів та імунореабілітологів України та за підтримки МОЗ України. Ключові слова: алергія, коров'яче молоко, лікування, прогноз

Основні положення настанов по веденню хворих з алергією до коров'ячого молока. Частина V. Лікування алергії до коров'ячого молока

The article presents the sections 15, 16, 17, 18, 19 f the World Allergy Organization guidelines DRACMA (Diagnosis and Rationale for Action against Cow's Milk Allergy), which was the prototype for the creation of national guidelines for the management of patients with the cow milk allergy. These sections cover the issues concerning the main characteristics of the milk of different animals, which is used to replace cow's milk (section 15); ensuring nutritional value in the treatment of CMA (section 16); the choice of theratment formula in different clinical situations (section 17); GRADE&recommendations for CMA immunotherapy (section 18) and guidelines for research and implementation of DRACMA (section 19). Guidelines developed by the panel on the initiative of Ukrainian Allergy Organization, Ukrainian Organization of children gastroenterologists and nutritionists, Ukrainian Organization of immunologists, allergists and imunoreabilitologists and supported by the Ministry of Health of Ukraine. Key words: allergy, cow's milk, proteins, treatment.В статье представлены разделы 15, 16, 17, 18 и 19 руководства Всемирной организации аллергологов DRACMA (Diagnosis and Rationale for Action against Cow's Milk Allergy), ставшего прототипом для создания отечественного Руководства по ведению больных с аллергией к коровьему молоку. В этих разделах рассматриваются основные характеристики молока разных животных, которое используют для замены коровьего молока (глава 15); обеспечение пищевой ценности при лечении АКМ (глава 16); выбор лечебной смеси в различных клинических ситуациях (глава 17); Grade-рекомендации касательно иммунотерапии АКМ (глава 18) и рекомендации для исследований и внедрений DRACMA (глава 19). Рекомендации разработаны рабочей группой по инициативе Ассоциации аллергологов, Ассоциации детских гастроэнтерологов и нутрициологов, Ассоциации иммунологов, аллергологов и иммунореабилитологов Украины и при поддержке МЗ Украины. Ключевые слова: аллергия, коровье молоко, лечение.У статі наведено розділи 15, 16, 17, 18 та 19 керівництва Всесвітньої організації алергологів DRACMA (Diagnosis and Rationale for Action against Cow's Milk Allergy), що стало прототипом для створення вітчизняних Настанов по веденню хворих з алергією до коров'ячого молока (АКМ). У цих розділах розглядаються основні характеристики молока від різних тварин, яке використовують для заміни коров'ячого молока (розділ 15); забезпечення харчової цінності при лікуванні АКМ (розділ 16); вибору лікувальної суміші при різних клінічних ситуаціях (розділ 17); Grade-рекомендації стосовно імунотерапії АКМ (роздiл 18) та рекомендації для дослідження та впровадження DRACMA (розділ 19). Настанови розроблені робочою групою за ініціативи Асоціації алергологів, Асоціації дитячих гастроентерологів та нутриціологів, Асоціації імунологів, алергологів та імунореабілітологів України та за підтримки МОЗ України. Ключові слова: алергія, коров'яче молоко, лікування

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

This is the author accepted manuscript. The final version is available from Elsevier via the DOI in this record Normal vascular development includes the formation and specification of arteries, veins, and intervening capillaries. Vein of Galen malformations (VOGMs) are among the most common and severe neonatal brain arterio-venous malformations, shunting arterial blood into the brain's deep venous system through aberrant direct connections. Exome sequencing of 55 VOGM probands, including 52 parent-offspring trios, revealed enrichment of rare damaging de novo mutations in chromatin modifier genes that play essential roles in brain and vascular development. Other VOGM probands harbored rare inherited damaging mutations in Ephrin signaling genes, including a genome-wide significant mutation burden in EPHB4. Inherited mutations showed incomplete penetrance and variable expressivity, with mutation carriers often exhibiting cutaneous vascular abnormalities, suggesting a two-hit mechanism. The identified mutations collectively account for ∼30% of studied VOGM cases. These findings provide insight into disease biology and may have clinical implications for risk assessment.Yale-NIH Center for Mendelian GenomicsNational Institutes of Health (NIH)American Heart AssociationHoward Hughes Institut

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Normal vascular development includes the formation and specification of arteries, veins, and intervening capillaries. Vein of Galen malformations (VOGMs) are among the most common and severe neonatal brain arterio-venous malformations, shunting arterial blood into the brain's deep venous system through aberrant direct connections. Exome sequencing of 55 VOGM probands, including 52 parent-offspring trios, revealed enrichment of rare damaging de novo mutations in chromatin modifier genes that play essential roles in brain and vascular development. Other VOGM probands harbored rare inherited damaging mutations in Ephrin signaling genes, including a genome-wide significant mutation burden in EPHB4. Inherited mutations showed incomplete penetrance and variable expressivity, with mutation carriers often exhibiting cutaneous vascular abnormalities, suggesting a two-hit mechanism. The identified mutations collectively account for ∼30% of studied VOGM cases. These findings provide insight into disease biology and may have clinical implications for risk assessment